RGD:8599872 Rat Genome Database

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Variant: RGD:8599872 -  Homo sapiens

RGD ID: 8599872
RS ID: rs28928897
ClinVar ID: CV29633
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRT17  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 39,780,481
GRCh38 17 41,624,229
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008625.1:g.5402G>C
NC_000017.11:g.41624229C>G
NC_000017.10:g.39780481C>G
NP_000413.1:p.Arg94Pro
More... 		04/10/2014 missense|missense variant pathogenic|not provided all ages|variable Jackson-Lawler syndrome; none provided; Pachyonychia congenita Jackson Lawler type; PC-K17
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KRT17
Accession:NM_000422
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTSIRQFTSSSSIKGSSGLGGGSSRTSCRLSGGLGAGSCRLGSAGGLGSTLGGSSYSSCYSFGSGGGYGSSFGGVDGLL
AGGEKATMQNLNDPLASYLDKVRALEEANTELEVKIRDWYQRQAPGPARDYSQYYRTIEELQNKILTATVDNANILLQID
NARLAADDFRTKFETEQALRLSVEADINGLRRVLDELTLARADLEMQIENLKEELAYLKKNHEEEMNALRGQVGGEINVE
MDAAPGVDLSRILNEMRDQYEKMAEKNRKDAEDWFFSKTEELNREVATNSELVQSGKSEISELRRTMQALEIELQSQLSM
KASLEGNLAETENRYCVQLSQIQGLIGSVEEQLAQLRCEMEQQNQEYKILLDVKTRLEQEIATYRRLLEGEDAHLTQYKK
EPVTTRQVRTIVEEVQDGKVISSREQVHQTTR*
Variant Samples
Additional References at PubMed
PMID:11348474  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000015698 CLINVAR
  RCV000056516 CLINVAR
dbSNP (RS) rs28928897 CLINVAR
MedGen C1721007 CLINVAR
  CN517202 CLINVAR
NCBI Gene KRT17 CLINVAR
OMIM 148069 CLINVAR
  167210 CLINVAR
OMIM Allele 148069.0009 CLINVAR